Canonical Allele Identifier: CA718227213

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 3015609
• ClinVar RCV Id: RCV003873696
• dbSNP Id: rs1356177629
• gnomAD v3: 16-1361725-G-GT
• gnomAD v4: 16-1361725-G-GT
• MyVariant Identifiers: chr16:g.1411726_1411727insT (hg19) ; chr16:g.1361725_1361726insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361726dup , CM000678.2:g.1361726dup	GRCh38
NC_000016.9:g.1411727dup , CM000678.1:g.1411727dup	GRCh37
NC_000016.8:g.1351728dup	NCBI36
NG_016985.1:g.14828dup
NG_033129.1:g.57979dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.278-17dup
ENST00000529110.2:c.263-17dup	ENSP00000435349.2:n.263-17dup
ENST00000529957.6:n.237-17dup
ENST00000683366.1:c.179-146dup	ENSP00000507283.1:n.179-146dup
ENST00000683887.1:c.210dup	ENSP00000506886.1:p.Val71CysfsTer28
ENST00000684100.1:n.82dup
ENST00000684126.1:n.237-17dup
ENST00000684688.1:n.787dup
ENST00000204679.9:c.179-17dup MANE Select	ENSP00000204679.4:n.179-17dup
ENST00000204679.8:c.179-17dup	ENSP00000204679.4:n.179-17dup
ENST00000526820.5:c.*81-17dup	ENSP00000434413.1:n.*81-17dup
ENST00000527076.1:n.1104dup
ENST00000527168.5:n.270-146dup
ENST00000529110.1:c.246-17dup
ENST00000529957.5:n.278-17dup
NM_032520.4:c.179-17dup	NP_115909.1:n.179-17dup
XM_017023782.1:c.210dup	XP_016879271.1:p.Val71CysfsTer28
XM_017023783.1:c.-182-17dup	XP_016879272.1:n.-182-17dup
NM_032520.5:c.179-17dup MANE Select	NP_115909.1:n.179-17dup